A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591293



Internal ID16032016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112266260..113293950hg38UCSC Ensembl
Innerchr3:111985107..113012797hg19UCSC Ensembl
Innerchr3:113467797..114495487hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381027691
hg191027691
hg181027691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971517
Samples
Known GenesATG3, BOC, BTLA, C3orf17, CCDC80, CD200, CD200R1, CD200R1L, GTPBP8, SLC35A5, SLC9C1, WDR52
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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